Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23072
Gene name Gene Name - the full gene name approved by the HGNC.
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HECW1
Synonyms (NCBI Gene) Gene synonyms aliases
NEDL1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1-p13
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT536936 hsa-miR-29b-3p PAR-CLIP 22012620
MIRT536935 hsa-miR-29a-3p PAR-CLIP 22012620
MIRT536934 hsa-miR-29c-3p PAR-CLIP 22012620
MIRT536933 hsa-miR-6835-3p PAR-CLIP 22012620
MIRT536932 hsa-miR-548c-3p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610384 22195 ENSG00000002746
Protein
UniProt ID Q76N89
Protein name E3 ubiquitin-protein ligase HECW1 (EC 2.3.2.26) (HECT, C2 and WW domain-containing protein 1) (HECT-type E3 ubiquitin transferase HECW1) (NEDD4-like E3 ubiquitin-protein ligase 1) (hNEDL1)
Protein function E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SO
PDB 3L4H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16562 HECW_N 65 184 N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2 Domain
PF00168 C2 206 319 C2 domain Domain
PF00397 WW 831 860 WW domain Domain
PF18436 HECW1_helix 948 1014 Helical box domain of E3 ubiquitin-protein ligase HECW1 Domain
PF00632 HECT 1301 1606 HECT-domain (ubiquitin-transferase) Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in neurons of adult and fetal brain. Weakly expressed in the kidney. {ECO:0000269|PubMed:14684739}.
Sequence
MLLHLCSVKNLYQNRFLGLAAMASPSRNSQSRRRCKEPLRYSYNPDQFHNMDLRGGPHDG
VTIPRSTSDTDLVTSDSRSTLMVSSSYYSIGHSQDLVIHWDIKEEVDAGDWIGMYLIDEV
LSENFLDYKNRGVNGSHRGQIIWKIDASSYFVEPETKICFKYYHGVSGALRATTPSVTVK
NSAA
PIFKSIGADETVQGQGSRRLISFSLSDFQAMGLKKGMFFNPDPYLKISIQPGKHSI
FPALPHHGQERRSKIIGNTVNPIWQAEQFSFVSLPTDVLEIEVKDKFAKSRPIIKRFLGK
LSMPVQRLLERHAIGDRVV
SYTLGRRLPTDHVSGQLQFRFEITSSIHPDDEEISLSTEPE
SAQIQDSPMNNLMESGSGEPRSEAPESSESWKPEQLGEGSVPDGPGNQSIELSRPAEEAA
VITEAGDQGMVSVGPEGAGELLAQVQKDIQPAPSAEELAEQLDLGEEASALLLEDGEAPA
STKEEPLEEEATTQSRAGREEEEKEQEEEGDVSTLEQGEGRLQLRASVKRKSRPCSLPVS
ELETVIASACGDPETPRTHYIRIHTLLHSMPSAQGGSAAEEEDGAEEESTLKDSSEKDGL
SEVDTVAADPSALEEDREEPEGATPGTAHPGHSGGHFPSLANGAAQDGDTHPSTGSESDS
SPRQGGDHSCEGCDASCCSPSCYSSSCYSTSCYSSSCYSASCYSPSCYNGNRFASHTRFS
SVDSAKISESTVFSSQDDEEEENSAFESVPDSMQSPELDPESTNGAGPWQDELAAPSGHV
ERSPEGLESPVAGPSNRREGECPILHNSQPVSQLPSLRPEHHHYPTIDEPLPPNWEARID
SHGRVFYVDHVNRTTTWQRP
TAAATPDGMRRSGSIQQMEQLNRRYQNIQRTIATERSEED
SGSQSCEQAPAGGGGGGGSDSEAESSQSSLDLRREGSLSPVNSQKITLLLQSPAVKFITN
PEFFTVLHANYSAYRVFTSSTCLKHMILKVRRDARNFERYQHNRDLVNFINMFA
DTRLEL
PRGWEIKTDQQGKSFFVDHNSRATTFIDPRIPLQNGRLPNHLTHRQHLQRLRSYSAGEAS
EVSRNRGASLLARPGHSLVAAIRSQHQHESLPLAYNDKIVAFLRQPNIFEMLQERQPSLA
RNHTLREKIHYIRTEGNHGLEKLSCDADLVILLSLFEEEIMSYVPLQAAFHPGYSFSPRC
SPCSSPQNSPGLQRASARAPSPYRRDFEAKLRNFYRKLEAKGFGQGPGKIKLIIRRDHLL
EGTFNQVMAYSRKELQRNKLYVTFVGEEGLDYSGPSREFFFLLSQELFNPYYGLFEYSAN
DTYTVQISPMSAFVENHLEWFRFSGRILGLALIHQYLLDAFFTRPFYKALLRLPCDLSDL
EYLDEEFHQSLQWMKDNNITDILDLTFTVNEEVFGQVTERELKSGGANTQVTEKNKKEYI
ERMVKWRVERGVVQQTEALVRGFYEVVDSRLVSVFDARELELVIAGTAEIDLNDWRNNTE
YRGGYHDGHLVIRWFWAAVERFNNEQRLRLLQFVTGTSSVPYEGFAALRGSNGLRRFCIE
KWGKITSLPRAHTCFNRLDLPPYPSYSMLYEKLLTAVEETSTFGLE
Sequence length 1606
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Degradation of DVL
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
23535033
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 29559693
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Follicular Associate 31238008
Amyotrophic Lateral Sclerosis Associate 36674783
Carcinogenesis Associate 21108931
Carcinoma Renal Cell Inhibit 34348693
COVID 19 Associate 34185889
Glioma Associate 38049396
Glomerulonephritis IGA Associate 31057023
Lymphatic Metastasis Associate 34348693
Muscular Dystrophy Emery Dreifuss Associate 29753763
Neoplasm Metastasis Inhibit 34348693